Oligosaccharide Urine Analysis

Turnaround Time

3 weeks

CPT Code(s)

84377

Cost

$250

• Alpha-mannosidosis
• Aspartylglucosaminuria
• Beta-mannosidosis
• Fucosidosis
• Galactosialidosis
• GM1 gangliosidosis
• Morquio syndrome B (MPS IVB)
• Schindler Disease also Kanzaki Disease
• Sialidosis also Mucolipidosis type I (ML I)

Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.

This urine analysis is a good first tier screening test when a storage disorder is expected. Additional testing, such as enzyme analysis or molecular testing may be needed to confirm a diagnosis.

Oligosaccharides are analyzed using liquid chromatography tandem mass spectrometry (LC-MS/MS). This new methodology improves the sensitivity and specificity of the test leading to fewer false positives.

Urine (3 ml minimum)

Urine should be sent frozen on dry ice by courier or overnight delivery. Specimens may be brought by courier at ambient temperature if it can be delivered on the day of collection.